ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.347T>G (p.Leu116Arg)

gnomAD frequency: 0.00001  dbSNP: rs765281181
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223725 SCV001395884 uncertain significance Cerebral creatine deficiency syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 116 of the GAMT protein (p.Leu116Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is present in population databases (rs765281181, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with GAMT-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001833939 SCV002087036 uncertain significance Deficiency of guanidinoacetate methyltransferase 2021-01-27 no assertion criteria provided clinical testing

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